Sunday 30 October 2022

What Connects A Man Who Was Involved In A Serious Car Accident,

that should have left him with at least a few broken bones,


photograph Cara Shelton/Unsplash but suffered no fractures at all, and a Nebraska family whose 21 members, ranging from age 3 to 93 had never suffered a bone fracture their whole lives? the answer is LRP5, which means their bones seem to be unusually dense, eight times denser than normal, to be precise, around the year 2000, Karl Insogna came across a Connecticut family who had very dense bones and unusually-square jaws, but otherwise normal skeletons. One of the family members, a doctor himself, had several hip replacement surgeries under his belt because his bones were so tough that doctors couldn’t screw the prosthesis into them, Insogna was reminded of the remarkable individual he had met in 1994, and after tracing the family’s origins determined that they and the car accident survivor from years past could be traced back to an extended kin group on the Eastern seaboard,


after analysing their unusual traits, Karl Insogna started focusing on a region of chromosome 11 that seemed responsible for their incredibly dense bones He was not the only one, a team at Case Western Reserve University had found a gene mutation called LRP5 which they had linked to bone density, and that turned out to be the key, today, many questions about the LRP5 mutation remain unanswered, but with the advent of genome sequencing technology, scientists are hopeful that the discovery of these incredibly dense human bones could lead to new treatments or even a cure for debilitating conditions like osteoporosis, “In contrast to other bone mass mutations, this is gain in bone formation, not inhibition of bone breakdown,” Prof. Insogna said. “In osteoporosis, that’s the Holy Grail.” so I guess when some one who is overweight says they have 'heavy bones' they really could have heavy bones!


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